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Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.2)

 SCN2A_HUMAN             Reviewed;        2005 AA.
Q99250; A6NC14; A6NIQ5; Q14472; Q53T77; Q9BZC9; Q9BZD0;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
08-NOV-2002, sequence version 3.
25-OCT-2017, entry version 187.
RecName: Full=Sodium channel protein type 2 subunit alpha;
AltName: Full=HBSC II;
AltName: Full=Sodium channel protein brain II subunit alpha;
AltName: Full=Sodium channel protein type II subunit alpha;
AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.2;
Name=SCN2A; Synonyms=NAC2, SCN2A1, SCN2A2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND SUBCELLULAR
LOCATION.
TISSUE=Brain;
PubMed=1325650; DOI=10.1073/pnas.89.17.8220;
Ahmed C.M., Ware D.H., Lee S.C., Patten C.D., Ferrer-Montiel A.V.,
Schinder A.F., McPherson J.D., Wagner-Mcpherson C.B., Wasmuth J.J.,
Evans G.A., Montal M.;
"Primary structure, chromosomal localization, and functional
expression of a voltage-gated sodium channel from human brain.";
Proc. Natl. Acad. Sci. U.S.A. 89:8220-8224(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
PubMed=11245985; DOI=10.1016/S0378-1119(00)00594-1;
Kasai N., Fukushima K., Ueki Y., Prasad S., Nosakowski J., Sugata K.,
Sugata A., Nishizaki K., Meyer N.C., Smith R.J.H.;
"Genomic structures of SCN2A and SCN3A -- candidate genes for deafness
at the DFNA16 locus.";
Gene 264:113-122(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-89.
Lu C.-M., Eichelberger J.S., Beckman M.L., Schade S.D., Brown G.B.;
"Isolation of the 5'-flanking region for human brain sodium channel
subtype II alpha-Subunit (SCN2A).";
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 1709-1994.
TISSUE=Brain;
PubMed=1317301; DOI=10.1016/0014-5793(92)80476-W;
Lu C.-M., Han J., Rado T.A., Brown G.B.;
"Differential expression of two sodium channel subtypes in human
brain.";
FEBS Lett. 303:53-58(1992).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1702-1772.
PubMed=1846440; DOI=10.1073/pnas.88.2.335;
Han J., Lu C.-M., Brown G.B., Rado T.A.;
"Direct amplification of a single dissected chromosomal segment by
polymerase chain reaction: a human brain sodium channel gene is on
chromosome 2q22-q23.";
Proc. Natl. Acad. Sci. U.S.A. 88:335-339(1991).
[7]
INTERACTION WITH SCN4B.
PubMed=24297919; DOI=10.1073/pnas.1314557110;
Gilchrist J., Das S., Van Petegem F., Bosmans F.;
"Crystallographic insights into sodium-channel modulation by the beta4
subunit.";
Proc. Natl. Acad. Sci. U.S.A. 110:E5016-E5024(2013).
[8]
SUBUNIT, AND INTERACTION WITH THE CONOTOXIN GVIIJ.
PubMed=24497506; DOI=10.1073/pnas.1324189111;
Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R.,
Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M.,
Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G.,
Wickenden A.D., Olivera B.M., Yoshikami D., Zhang M.M.;
"A disulfide tether stabilizes the block of sodium channels by the
conotoxin muO[section sign]-GVIIJ.";
Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014).
[9]
SUBUNIT, AND INTERACTION WITH THE SPIDER
BETA/DELTA-THERAPHOTOXIN-PRE1A.
PubMed=28428547; DOI=10.1038/s41598-017-01129-0;
Wingerd J.S., Mozar C.A., Ussing C.A., Murali S.S., Chin Y.K.,
Cristofori-Armstrong B., Durek T., Gilchrist J., Vaughan C.W.,
Bosmans F., Adams D.J., Lewis R.J., Alewood P.F., Mobli M.,
Christie M.J., Rash L.D.;
"The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance
of the S1-S2 voltage-sensor region for sodium channel subtype
selectivity.";
Sci. Rep. 7:974-988(2017).
[10]
VARIANT HIS-1918.
PubMed=11738931;
Haug K., Hallmann K., Rebstock J., Dullinger J., Muth S.,
Haverkamp F., Pfeiffer H., Rau B., Elger C.E., Propping P., Heils A.;
"The voltage-gated sodium channel gene SCN2A and idiopathic
generalized epilepsy.";
Epilepsy Res. 47:243-246(2001).
[11]
VARIANT BFIS3 TRP-188, CHARACTERIZATION OF VARIANT BFIS3 TRP-188, AND
VARIANTS LYS-19 AND GLN-524.
PubMed=11371648; DOI=10.1073/pnas.111065098;
Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G.,
Mazaki-Miyazaki E., Nagafuji H., Noda M., Imoto K., Wada K.,
Mitsudome A., Kaneko S., Montal M., Nagata K., Hirose S., Yamakawa K.;
"A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2
in a patient with febrile and afebrile seizures causes channel
dysfunction.";
Proc. Natl. Acad. Sci. U.S.A. 98:6384-6389(2001).
[12]
ERRATUM.
Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G.,
Mazaki-Miyazaki E., Nagafuji H., Noda M., Imoto K., Wada K.,
Mitsudome A., Kaneko S., Montal M., Nagata K., Hirose S., Yamakawa K.;
Proc. Natl. Acad. Sci. U.S.A. 98:10515-10515(2001).
[13]
VARIANTS BFIS3 PHE-1330 AND VAL-1563.
PubMed=12243921; DOI=10.1016/S0140-6736(02)09968-3;
Heron S.E., Crossland K.M., Andermann E., Phillips H.A., Hall A.J.,
Bleasel A., Shevell M., Mercho S., Seni M.H., Guiot M.C., Mulley J.C.,
Berkovic S.F., Scheffer I.E.;
"Sodium-channel defects in benign familial neonatal-infantile
seizures.";
Lancet 360:851-852(2002).
[14]
ERRATUM.
Heron S.E., Crossland K.M., Andermann E., Phillips H.A., Hall A.J.,
Bleasel A., Shevell M., Mercho S., Seni M.H., Guiot M.C., Mulley J.C.,
Berkovic S.F., Scheffer I.E.;
Lancet 360:1520-1520(2002).
[15]
VARIANTS LYS-19 AND THR-1902.
PubMed=12610651; DOI=10.1038/sj.mp.4001241;
Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T.,
Mori M., Reichert J., Buxbaum J.D., Meisler M.H.;
"Sodium channels SCN1A, SCN2A and SCN3A in familial autism.";
Mol. Psychiatry 8:186-194(2003).
[16]
VARIANTS BFIS3 GLN-223; ILE-892; ILE-1003 AND GLN-1319.
PubMed=15048894; DOI=10.1002/ana.20029;
Berkovic S.F., Heron S.E., Giordano L., Marini C., Guerrini R.,
Kaplan R.E., Gambardella A., Steinlein O.K., Grinton B.E., Dean J.T.,
Bordo L., Hodgson B.L., Yamamoto T., Mulley J.C., Zara F.,
Scheffer I.E.;
"Benign familial neonatal-infantile seizures: characterization of a
new sodium channelopathy.";
Ann. Neurol. 55:550-557(2004).
[17]
VARIANT 102-ARG--LYS-2005 DEL, AND CHARACTERIZATION OF VARIANT
102-ARG--LYS-2005 DEL.
PubMed=15028761; DOI=10.1523/JNEUROSCI.3089-03.2004;
Kamiya K., Kaneda M., Sugawara T., Mazaki E., Okamura N., Montal M.,
Makita N., Tanaka M., Fukushima K., Fujiwara T., Inoue Y.,
Yamakawa K.;
"A nonsense mutation of the sodium channel gene SCN2A in a patient
with intractable epilepsy and mental decline.";
J. Neurosci. 24:2690-2698(2004).
[18]
VARIANT VAL-328.
PubMed=16122630; DOI=10.1016/j.braindev.2004.11.005;
Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y.,
Tateno A., Hachimori K., Yamakawa K., Segawa M.;
"A missense mutation in SCN1A in brothers with severe myoclonic
epilepsy in infancy (SMEI) inherited from a father with febrile
seizures.";
Brain Dev. 27:424-430(2005).
[19]
VARIANT BFIS3 LYS-1001.
PubMed=16417554; DOI=10.1111/j.1528-1167.2006.00392.x;
Striano P., Bordo L., Lispi M.L., Specchio N., Minetti C.,
Vigevano F., Zara F.;
"A novel SCN2A mutation in family with benign familial infantile
seizures.";
Epilepsia 47:218-220(2006).
[20]
CHARACTERIZATION OF VARIANTS BFIS3 GLN-223; GLN-1319; PHE-1330 AND
VAL-1563, AND FUNCTION.
PubMed=17021166; DOI=10.1523/JNEUROSCI.2476-06.2006;
Scalmani P., Rusconi R., Armatura E., Zara F., Avanzini G.,
Franceschetti S., Mantegazza M.;
"Effects in neocortical neurons of mutations of the Na(v)1.2 Na+
channel causing benign familial neonatal-infantile seizures.";
J. Neurosci. 26:10100-10109(2006).
[21]
VARIANTS BFIS3 GLN-430 AND SER-1596.
PubMed=17386050; DOI=10.1111/j.1528-1167.2007.01049.x;
Herlenius E., Heron S.E., Grinton B.E., Keay D., Scheffer I.E.,
Mulley J.C., Berkovic S.F.;
"SCN2A mutations and benign familial neonatal-infantile seizures: the
phenotypic spectrum.";
Epilepsia 48:1138-1142(2007).
[22]
CHARACTERIZATION OF VARIANTS BFIS3 GLN-1319; PHE-1330 AND VAL-1563.
PubMed=18479388; DOI=10.1111/j.1528-1167.2008.01619.x;
Misra S.N., Kahlig K.M., George A.L. Jr.;
"Impaired NaV1.2 function and reduced cell surface expression in
benign familial neonatal-infantile seizures.";
Epilepsia 49:1535-1545(2008).
[23]
VARIANTS ASN-322 AND VAL-328, AND VARIANT EIEE11 THR-1312.
PubMed=19783390; DOI=10.1016/j.braindev.2009.08.009;
Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.;
"Missense mutation of the sodium channel gene SCN2A causes Dravet
syndrome.";
Brain Dev. 31:758-762(2009).
[24]
VARIANTS EIEE11 LYS-1211 AND MET-1473, VARIANTS LYS-19; VAL-328;
GLN-524 AND VAL-575, CHARACTERIZATION OF VARIANTS EIEE11 LYS-1211 AND
MET-1473, AND CHARACTERIZATION OF VARIANT VAL-575.
PubMed=19786696; DOI=10.1212/WNL.0b013e3181b9cebc;
Ogiwara I., Ito K., Sawaishi Y., Osaka H., Mazaki E., Inoue I.,
Montal M., Hashikawa T., Shike T., Fujiwara T., Inoue Y., Kaneda M.,
Yamakawa K.;
"De novo mutations of voltage-gated sodium channel alphaII gene SCN2A
in intractable epilepsies.";
Neurology 73:1046-1053(2009).
[25]
VARIANTS BFIS3 VAL-252 AND MET-261, AND CHARACTERIZATION OF VARIANTS
BFIS3 VAL-252 AND MET-261.
PubMed=20371507; DOI=10.1093/brain/awq057;
Liao Y., Deprez L., Maljevic S., Pitsch J., Claes L., Hristova D.,
Jordanova A., Ala-Mello S., Bellan-Koch A., Blazevic D., Schubert S.,
Thomas E.A., Petrou S., Becker A.J., De Jonghe P., Lerche H.;
"Molecular correlates of age-dependent seizures in an inherited
neonatal-infantile epilepsy.";
Brain 133:1403-1414(2010).
[26]
VARIANT EIEE11 VAL-263, AND CHARACTERIZATION OF VARIANT EIEE11
VAL-263.
PubMed=20956790; DOI=10.1212/WNL.0b013e3181f8812e;
Liao Y., Anttonen A.K., Liukkonen E., Gaily E., Maljevic S.,
Schubert S., Bellan-Koch A., Petrou S., Ahonen V.E., Lerche H.,
Lehesjoki A.E.;
"SCN2A mutation associated with neonatal epilepsy, late-onset episodic
ataxia, myoclonus, and pain.";
Neurology 75:1454-1458(2010).
[27]
VARIANT BFIS3 GLU-208.
PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M.,
Klopstock T., Prott E.C., Lorenz R., Spaich C., Rona S.,
Lakshminarasimhan M., Kroell J., Dorn T., Kraemer G., Synofzik M.,
Becker F., Weber Y.G., Lerche H., Boehm D., Biskup S.;
"Targeted next generation sequencing as a diagnostic tool in epileptic
disorders.";
Epilepsia 53:1387-1398(2012).
[28]
VARIANT THR-1128.
PubMed=22591750; DOI=10.1016/j.eplepsyres.2012.04.016;
Kobayashi K., Ohzono H., Shinohara M., Saitoh M., Ohmori I.,
Ohtsuka Y., Mizuguchi M.;
"Acute encephalopathy with a novel point mutation in the SCN2A gene.";
Epilepsy Res. 102:109-112(2012).
[29]
VARIANTS LYS-19; ASN-322; VAL-328 AND ASN-649, AND VARIANT EIEE11
THR-1312.
PubMed=23195492; DOI=10.1016/j.eplepsyres.2012.06.006;
Wang J.W., Shi X.Y., Kurahashi H., Hwang S.K., Ishii A., Higurashi N.,
Kaneko S., Hirose S.;
"Prevalence of SCN1A mutations in children with suspected Dravet
syndrome and intractable childhood epilepsy.";
Epilepsy Res. 102:195-200(2012).
[30]
CHARACTERIZATION OF VARIANT EIEE11 THR-1312.
PubMed=22677033; DOI=10.1016/j.nbd.2012.05.017;
Lossin C., Shi X., Rogawski M.A., Hirose S.;
"Compromised function in the Na(v)1.2 Dravet syndrome mutation
R1312T.";
Neurobiol. Dis. 47:378-384(2012).
[31]
VARIANT EIEE11 1398-TRP--LYS-2005 DEL.
PubMed=23033978; DOI=10.1056/NEJMoa1206524;
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P.,
Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B.,
Brunner H.G., Veltman J.A., Vissers L.E.;
"Diagnostic exome sequencing in persons with severe intellectual
disability.";
N. Engl. J. Med. 367:1921-1929(2012).
[32]
VARIANT EIEE11 VAL-263.
PubMed=23550958; DOI=10.1111/epi.12137;
Touma M., Joshi M., Connolly M.C., Grant P.E., Hansen A.R., Khwaja O.,
Berry G.T., Kinney H.C., Poduri A., Agrawal P.B.;
"Whole genome sequencing identifies SCN2A mutation in monozygotic
twins with Ohtahara syndrome and unique neuropathologic findings.";
Epilepsia 54:E81-E85(2013).
[33]
VARIANT BFIS3 CYS-1589, AND CHARACTERIZATION OF VARIANT BFIS3
CYS-1589.
PubMed=23758435; DOI=10.1111/epi.12241;
Lauxmann S., Boutry-Kryza N., Rivier C., Mueller S., Hedrich U.B.,
Maljevic S., Szepetowski P., Lerche H., Lesca G.;
"An SCN2A mutation in a family with infantile seizures from Madagascar
reveals an increased subthreshold Na(+) current.";
Epilepsia 54:E117-E121(2013).
[34]
VARIANTS BFIS3 GLN-223; LYS-1001; GLN-1319 AND ASN-1641.
PubMed=23360469; DOI=10.1111/epi.12089;
Zara F., Specchio N., Striano P., Robbiano A., Gennaro E.,
Paravidino R., Vanni N., Beccaria F., Capovilla G., Bianchi A.,
Caffi L., Cardilli V., Darra F., Bernardina B.D., Fusco L.,
Gaggero R., Giordano L., Guerrini R., Incorpora G., Mastrangelo M.,
Spaccini L., Laverda A.M., Vecchi M., Vanadia F., Veggiotti P.,
Viri M., Occhi G., Budetta M., Taglialatela M., Coviello D.A.,
Vigevano F., Minetti C.;
"Genetic testing in benign familial epilepsies of the first year of
life: clinical and diagnostic significance.";
Epilepsia 54:425-436(2013).
[35]
VARIANT EIEE11 ASP-211.
PubMed=23662938; DOI=10.1111/epi.12203;
Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G.,
Tohyama J., Nakamura K., Nakagawa E., Ikeda T., Ben-Zeev B., Lev D.,
Lerman-Sagie T., Straussberg R., Tanabe S., Ueda K., Amamoto M.,
Ohta S., Nonoda Y., Nishiyama K., Tsurusaki Y., Nakashima M.,
Miyake N., Hayasaka K., King M.C., Matsumoto N., Saitsu H.;
"Targeted capture and sequencing for detection of mutations causing
early onset epileptic encephalopathy.";
Epilepsia 54:1262-1269(2013).
[36]
VARIANTS EIEE11 ILE-136; ASN-905; CYS-928 AND GLN-1882.
PubMed=23708187; DOI=10.1038/ng.2646;
Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J.,
Cook J., Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S.,
Wallace G., Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S.,
Mackay M.T., Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z.,
Zelnick N., Lerman-Sagie T., Lev D., Moeller R.S., Gill D.,
Andrade D.M., Freeman J.L., Sadleir L.G., Shendure J., Berkovic S.F.,
Scheffer I.E., Mefford H.C.;
"Targeted resequencing in epileptic encephalopathies identifies de
novo mutations in CHD2 and SYNGAP1.";
Nat. Genet. 45:825-830(2013).
[37]
VARIANTS EIEE11 GLY-169; ASP-212; ASP-213; SER-236; THR-263; GLN-853;
THR-876; LYS-999; VAL-1323; LEU-1326; TYR-1336; THR-1338; ASN-1623 AND
LEU-1629.
PubMed=23935176; DOI=10.1212/WNL.0b013e3182a43e57;
Nakamura K., Kato M., Osaka H., Yamashita S., Nakagawa E.,
Haginoya K., Tohyama J., Okuda M., Wada T., Shimakawa S., Imai K.,
Takeshita S., Ishiwata H., Lev D., Lerman-Sagie T.,
Cervantes-Barragan D.E., Villarroel C.E., Ohfu M., Writzl K.,
Gnidovec Strazisar B., Hirabayashi S., Chitayat D., Myles Reid D.,
Nishiyama K., Kodera H., Nakashima M., Tsurusaki Y., Miyake N.,
Hayasaka K., Matsumoto N., Saitsu H.;
"Clinical spectrum of SCN2A mutations expanding to Ohtahara
syndrome.";
Neurology 81:992-998(2013).
[38]
VARIANT GLU-1422.
PubMed=23827426; DOI=10.1016/j.pediatrneurol.2013.03.002;
Sundaram S.K., Chugani H.T., Tiwari V.N., Huq A.H.;
"SCN2A mutation is associated with infantile spasms and bitemporal
glucose hypometabolism.";
Pediatr. Neurol. 49:46-49(2013).
[39]
VARIANT EIEE11 ASP-1326.
PubMed=23988467; DOI=10.1016/j.pediatrneurol.2013.07.004;
Dhamija R., Wirrell E., Falcao G., Kirmani S., Wong-Kisiel L.C.;
"Novel de novo SCN2A mutation in a child with migrating focal seizures
of infancy.";
Pediatr. Neurol. 49:486-488(2013).
[40]
VARIANT EIEE11 LEU-1882.
PubMed=24579881; DOI=10.1111/epi.12554;
Baasch A.L., Huening I., Gilissen C., Klepper J., Veltman J.A.,
Gillessen-Kaesbach G., Hoischen A., Lohmann K.;
"Exome sequencing identifies a de novo SCN2A mutation in a patient
with intractable seizures, severe intellectual disability, optic
atrophy, muscular hypotonia, and brain abnormalities.";
Epilepsia 55:E25-E29(2014).
[41]
VARIANTS EIEE11 LYS-132; GLY-430 AND PRO-1342.
PubMed=24659627; DOI=10.1684/epd.2014.0641;
Matalon D., Goldberg E., Medne L., Marsh E.D.;
"Confirming an expanded spectrum of SCN2A mutations: a case series.";
Epileptic Disord. 16:13-18(2014).
[42]
VARIANT EIEE11 ARG-1853.
PubMed=24463883; DOI=10.1093/hmg/ddu030;
WGS500 Consortium;
Martin H.C., Kim G.E., Pagnamenta A.T., Murakami Y., Carvill G.L.,
Meyer E., Copley R.R., Rimmer A., Barcia G., Fleming M.R.,
Kronengold J., Brown M.R., Hudspith K.A., Broxholme J., Kanapin A.,
Cazier J.B., Kinoshita T., Nabbout R., Bentley D., McVean G.,
Heavin S., Zaiwalla Z., McShane T., Mefford H.C., Shears D.,
Stewart H., Kurian M.A., Scheffer I.E., Blair E., Donnelly P.,
Kaczmarek L.K., Taylor J.C.;
"Clinical whole-genome sequencing in severe early-onset epilepsy
reveals new genes and improves molecular diagnosis.";
Hum. Mol. Genet. 23:3200-3211(2014).
[43]
VARIANT EIEE11 PRO-1342.
PubMed=24710820; DOI=10.1055/s-0034-1372302;
Hackenberg A., Baumer A., Sticht H., Schmitt B., Kroell-Seger J.,
Wille D., Joset P., Papuc S., Rauch A., Plecko B.;
"Infantile epileptic encephalopathy, transient choreoathetotic
movements, and hypersomnia due to a De Novo missense mutation in the
SCN2A gene.";
Neuropediatrics 45:261-264(2014).
[44]
VARIANT EIEE11 TRP-1660.
PubMed=25457084; DOI=10.1016/j.braindev.2014.10.001;
Fukasawa T., Kubota T., Negoro T., Saitoh M., Mizuguchi M., Ihara Y.,
Ishii A., Hirose S.;
"A case of recurrent encephalopathy with SCN2A missense mutation.";
Brain Dev. 37:631-634(2015).
[45]
VARIANTS EIEE11 GLY-220 AND ALA-1522.
PubMed=25818041; DOI=10.1111/epi.12954;
Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A.,
Moharir M., Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
"Diagnostic yield of genetic testing in epileptic encephalopathy in
childhood.";
Epilepsia 56:707-716(2015).
[46]
VARIANTS BFIS3 LYS-1321 AND LYS-1531.
PubMed=25982755; DOI=10.1111/epi.13020;
Grinton B.E., Heron S.E., Pelekanos J.T., Zuberi S.M., Kivity S.,
Afawi Z., Williams T.C., Casalaz D.M., Yendle S., Linder I., Lev D.,
Lerman-Sagie T., Malone S., Bassan H., Goldberg-Stern H., Stanley T.,
Hayman M., Calvert S., Korczyn A.D., Shevell M., Scheffer I.E.,
Mulley J.C., Berkovic S.F.;
"Familial neonatal seizures in 36 families: Clinical and genetic
features correlate with outcome.";
Epilepsia 56:1071-1080(2015).
[47]
VARIANTS VAL-172 AND VAL-328.
PubMed=26311622; DOI=10.1016/j.eplepsyres.2015.08.001;
Saitoh M., Ishii A., Ihara Y., Hoshino A., Terashima H., Kubota M.,
Kikuchi K., Yamanaka G., Amemiya K., Hirose S., Mizuguchi M.;
"Missense mutations in sodium channel SCN1A and SCN2A predispose
children to encephalopathy with severe febrile seizures.";
Epilepsy Res. 117:1-6(2015).
[48]
VARIANTS 583-ARG--LYS-2005 DEL AND ARG-1372.
PubMed=25969726; DOI=10.1186/s13229-015-0017-0;
Codina-Sola M., Rodriguez-Santiago B., Homs A., Santoyo J., Rigau M.,
Aznar-Lain G., Del Campo M., Gener B., Gabau E., Botella M.P.,
Gutierrez-Arumi A., Antinolo G., Perez-Jurado L.A., Cusco I.;
"Integrated analysis of whole-exome sequencing and transcriptome
profiling in males with autism spectrum disorders.";
Mol. Autism 6:21-21(2015).
[49]
VARIANTS EIEE11 ILE-136; LYS-218; LEU-856; ASN-905; CYS-928; ARG-1593;
VAL-1634 AND GLN-1882, VARIANT BFIS3 SER-240, AND VARIANT LYS-976.
PubMed=26291284; DOI=10.1212/WNL.0000000000001926;
Howell K.B., McMahon J.M., Carvill G.L., Tambunan D., Mackay M.T.,
Rodriguez-Casero V., Webster R., Clark D., Freeman J.L., Calvert S.,
Olson H.E., Mandelstam S., Poduri A., Mefford H.C., Harvey A.S.,
Scheffer I.E.;
"SCN2A encephalopathy: A major cause of epilepsy of infancy with
migrating focal seizures.";
Neurology 85:958-966(2015).
[50]
VARIANTS LYS-674; 1515-ARG--LYS-2005 DEL AND ARG-1744.
PubMed=26637798; DOI=10.1016/j.neuron.2015.11.009;
D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T.,
Sestan N., Walsh C.A.;
"Targeted DNA Sequencing from Autism Spectrum Disorder Brains
Implicates Multiple Genetic Mechanisms.";
Neuron 88:910-917(2015).
[51]
VARIANT EIEE11 PRO-1342.
PubMed=26138355; DOI=10.1111/cge.12636;
Dimassi S., Labalme A., Ville D., Calender A., Mignot C.,
Boutry-Kryza N., de Bellescize J., Rivier-Ringenbach C.,
Bourel-Ponchel E., Cheillan D., Simonet T., Maincent K., Rossi M.,
Till M., Mougou-Zerelli S., Edery P., Saad A., Heron D.,
des Portes V., Sanlaville D., Lesca G.;
"Whole-exome sequencing improves the diagnosis yield in sporadic
infantile spasm syndrome.";
Clin. Genet. 89:198-204(2016).
[52]
VARIANTS EIEE11 MET-873; ILE-987; LYS-999; VAL-999; GLN-1260;
GLU-1260; 1435-ARG--LYS-2005 DEL; PRO-1479; PRO-1650; PHE-1829 AND
GLN-1882.
PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L.,
Kurian M.A., Scott R.H.;
"Improving diagnosis and broadening the phenotypes in early-onset
seizure and severe developmental delay disorders through gene panel
analysis.";
J. Med. Genet. 53:310-317(2016).
[53]
VARIANTS VAL-263; ALA-1522 AND GLY-1882, AND CHARACTERIZATION OF
VARIANTS ALA-1522 AND GLY-1882.
PubMed=26645390; DOI=10.1007/s00415-015-7984-0;
Schwarz N., Hahn A., Bast T., Mueller S., Loeffler H., Maljevic S.,
Gaily E., Prehl I., Biskup S., Joensuu T., Lehesjoki A.E.,
Neubauer B.A., Lerche H., Hedrich U.B.;
"Mutations in the sodium channel gene SCN2A cause neonatal epilepsy
with late-onset episodic ataxia.";
J. Neurol. 263:334-343(2016).
[54]
VARIANTS LYS-19; 169-GLU--LYS-2005 DEL; PRO-850; ARG-908; PHE-1282;
VAL-1559 AND ALA-1823.
PubMed=26555645; DOI=10.1097/YPG.0000000000000110;
Carroll L.S., Woolf R., Ibrahim Y., Williams H.J., Dwyer S.,
Walters J., Kirov G., O'Donovan M.C., Owen M.J.;
"Mutation screening of SCN2A in schizophrenia and identification of a
novel loss-of-function mutation.";
Psychiatr. Genet. 26:60-65(2016).
[55]
VARIANTS ASN-12; GLY-82; HIS-379; CYS-937; HIS-937; 959-CYS--LYS-2005
DEL; 1013-GLY--LYS-2005 DEL; ARG-1386 AND MET-1420, CHARACTERIZATION
OF VARIANTS ASN-12; GLY-82; HIS-379; CYS-937; HIS-937;
959-CYS--LYS-2005 DEL; 1013-GLY--LYS-2005 DEL; ARG-1386 AND MET-1420,
INVOLVEMENT IN AUTISM SPECTRUM DISORDER, AND FUNCTION.
PubMed=28256214; DOI=10.1016/j.biopsych.2017.01.009;
Ben-Shalom R., Keeshen C.M., Berrios K.N., An J.Y., Sanders S.J.,
Bender K.J.;
"Opposing Effects on NaV1.2 Function Underlie Differences Between
SCN2A Variants Observed in Individuals With Autism Spectrum Disorder
or Infantile Seizures.";
Biol. Psychiatry 82:224-232(2017).
[56]
VARIANT GLY-191, AND VARIANTS EIEE11 ILE-251; VAL-263; VAL-896;
VAL-1316; VAL-1323; TYR-1344; THR-1548 AND GLN-1882.
PubMed=27864847; DOI=10.1002/humu.23149;
Clinical Study Group;
Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D.,
Bigoni S., Barba C., Mari F., Montomoli M., Pisano T., Rosati A.,
Guerrini R.;
"Diagnostic targeted resequencing in 349 patients with drug-resistant
pediatric epilepsies identifies causative mutations in 30 different
genes.";
Hum. Mutat. 38:216-225(2017).
-!- FUNCTION: Mediates the voltage-dependent sodium ion permeability
of excitable membranes. Assuming opened or closed conformations in
response to the voltage difference across the membrane, the
protein forms a sodium-selective channel through which Na(+) ions
may pass in accordance with their electrochemical gradient.
{ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166,
ECO:0000269|PubMed:28256214}.
-!- SUBUNIT: Heterooligomer of a large alpha subunit and a smaller
beta subunit. Heterooligomer with SCN2B or SCN4B; disulfide-
linked. Interacts with NEDD4L. Interacts with CALM. Interacts with
the conotoxin GVIIJ (PubMed:24497506). Interacts with the
conotoxin GVIIJ (PubMed:24497506). Interacts with the spider
beta/delta-theraphotoxin-Pre1a (PubMed:28428547).
{ECO:0000269|PubMed:24297919, ECO:0000269|PubMed:24497506,
ECO:0000269|PubMed:28428547}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1325650};
Multi-pass membrane protein {ECO:0000269|PubMed:1325650}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=Adult, 6A;
IsoId=Q99250-1; Sequence=Displayed;
Name=2; Synonyms=Neonatal, 6N;
IsoId=Q99250-2; Sequence=VSP_001032;
-!- DOMAIN: The sequence contains 4 internal repeats, each with 5
hydrophobic segments (S1, S2, S3, S5, S6) and one positively
charged segment (S4). Segments S4 are probably the voltage-sensors
and are characterized by a series of positively charged amino
acids at every third position. {ECO:0000305}.
-!- PTM: May be ubiquitinated by NEDD4L; which would promote its
endocytosis. {ECO:0000250}.
-!- PTM: Phosphorylation at Ser-1506 by PKC in a highly conserved
cytoplasmic loop slows inactivation of the sodium channel and
reduces peak sodium currents. {ECO:0000250}.
-!- DISEASE: Seizures, benign familial infantile, 3 (BFIS3)
[MIM:607745]: A form of benign familial infantile epilepsy, a
neurologic disorder characterized by afebrile seizures occurring
in clusters during the first year of life, without neurologic
sequelae. BFIS3 inheritance is autosomal dominant.
{ECO:0000269|PubMed:11371648, ECO:0000269|PubMed:12243921,
ECO:0000269|PubMed:15048894, ECO:0000269|PubMed:16417554,
ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:17386050,
ECO:0000269|PubMed:18479388, ECO:0000269|PubMed:20371507,
ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23360469,
ECO:0000269|PubMed:23758435, ECO:0000269|PubMed:25982755,
ECO:0000269|PubMed:26291284}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Epileptic encephalopathy, early infantile, 11 (EIEE11)
[MIM:613721]: An autosomal dominant seizure disorder characterized
by neonatal or infantile onset of refractory seizures with
resultant delayed neurologic development and persistent neurologic
abnormalities. Patients may progress to West syndrome, which is
characterized by tonic spasms with clustering, arrest of
psychomotor development, and hypsarrhythmia on EEG.
{ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:19786696,
ECO:0000269|PubMed:20956790, ECO:0000269|PubMed:22677033,
ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:23550958, ECO:0000269|PubMed:23662938,
ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:23935176,
ECO:0000269|PubMed:23988467, ECO:0000269|PubMed:24463883,
ECO:0000269|PubMed:24579881, ECO:0000269|PubMed:24659627,
ECO:0000269|PubMed:24710820, ECO:0000269|PubMed:25457084,
ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26138355,
ECO:0000269|PubMed:26291284, ECO:0000269|PubMed:26993267,
ECO:0000269|PubMed:27864847}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Defects in SCN2A are associated with autism spectrum
disorders (ASD). It seems that mutations resulting in sodium
channel gain of function and increased neuron excitability lead to
infantile seizures, whereas variants resulting in sodium channel
loss of function and decrease neruon excitability are associated
with ASD. {ECO:0000269|PubMed:28256214}.
-!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
Nav1.2/SCN2A subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=CAA46438.1; Type=Frameshift; Positions=1953; Evidence={ECO:0000305};
Sequence=CAA46438.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; M94055; AAA18895.1; -; mRNA.
EMBL; AF059683; AAC14574.1; -; Genomic_DNA.
EMBL; AF327246; AAG53413.1; -; Genomic_DNA.
EMBL; AF327226; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327227; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327228; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327229; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327230; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327231; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327232; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327233; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327234; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327235; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327236; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327237; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327238; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327239; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327240; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327241; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327242; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327243; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327244; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327245; AAG53413.1; JOINED; Genomic_DNA.
EMBL; AF327246; AAG53412.1; -; Genomic_DNA.
EMBL; AF327226; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327227; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327228; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327229; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327230; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327231; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327232; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327233; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327234; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327235; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327236; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327237; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327238; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327239; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327240; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327241; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327242; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327243; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327244; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AF327245; AAG53412.1; JOINED; Genomic_DNA.
EMBL; AC011303; AAY14971.1; -; Genomic_DNA.
EMBL; AC013438; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; X65361; CAA46438.1; ALT_SEQ; mRNA.
EMBL; M91804; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; M55662; AAB65854.2; -; Genomic_DNA.
CCDS; CCDS33313.1; -. [Q99250-2]
CCDS; CCDS33314.1; -. [Q99250-1]
PIR; A46269; A46269.
PIR; I59194; I59194.
RefSeq; NP_001035232.1; NM_001040142.1. [Q99250-1]
RefSeq; NP_001035233.1; NM_001040143.1. [Q99250-2]
RefSeq; NP_066287.2; NM_021007.2. [Q99250-1]
RefSeq; XP_005246810.1; XM_005246753.3. [Q99250-2]
RefSeq; XP_016860144.1; XM_017004655.1. [Q99250-1]
RefSeq; XP_016860145.1; XM_017004656.1. [Q99250-1]
RefSeq; XP_016860146.1; XM_017004657.1. [Q99250-2]
UniGene; Hs.93485; -.
PDB; 2KAV; NMR; -; A=1777-1882.
PDB; 4JPZ; X-ray; 3.02 A; B/H=1777-1937.
PDBsum; 2KAV; -.
PDBsum; 4JPZ; -.
ProteinModelPortal; Q99250; -.
SMR; Q99250; -.
CORUM; Q99250; -.
IntAct; Q99250; 4.
MINT; MINT-1388751; -.
STRING; 9606.ENSP00000283256; -.
BindingDB; Q99250; -.
ChEMBL; CHEMBL4187; -.
DrugBank; DB00555; Lamotrigine.
DrugBank; DB00818; Propofol.
DrugBank; DB05232; Tetrodotoxin.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00909; Zonisamide.
GuidetoPHARMACOLOGY; 579; -.
TCDB; 1.A.1.10.12; the voltage-gated ion channel (vic) superfamily.
iPTMnet; Q99250; -.
PhosphoSitePlus; Q99250; -.
BioMuta; SCN2A; -.
DMDM; 25014053; -.
PaxDb; Q99250; -.
PeptideAtlas; Q99250; -.
PRIDE; Q99250; -.
Ensembl; ENST00000283256; ENSP00000283256; ENSG00000136531. [Q99250-1]
Ensembl; ENST00000375427; ENSP00000364576; ENSG00000136531. [Q99250-2]
Ensembl; ENST00000375437; ENSP00000364586; ENSG00000136531. [Q99250-1]
Ensembl; ENST00000631182; ENSP00000486885; ENSG00000136531. [Q99250-2]
Ensembl; ENST00000636071; ENSP00000490107; ENSG00000136531. [Q99250-2]
Ensembl; ENST00000637266; ENSP00000490866; ENSG00000136531. [Q99250-1]
GeneID; 6326; -.
KEGG; hsa:6326; -.
UCSC; uc002udc.4; human. [Q99250-1]
CTD; 6326; -.
DisGeNET; 6326; -.
EuPathDB; HostDB:ENSG00000136531.13; -.
GeneCards; SCN2A; -.
H-InvDB; HIX0029932; -.
HGNC; HGNC:10588; SCN2A.
HPA; CAB022567; -.
MalaCards; SCN2A; -.
MIM; 182390; gene.
MIM; 607745; phenotype.
MIM; 613721; phenotype.
neXtProt; NX_Q99250; -.
OpenTargets; ENSG00000136531; -.
Orphanet; 306; Benign familial infantile epilepsy.
Orphanet; 140927; Benign familial neonatal-infantile seizures.
Orphanet; 33069; Dravet syndrome.
Orphanet; 1934; Early infantile epileptic encephalopathy.
Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
Orphanet; 3451; West syndrome.
PharmGKB; PA35004; -.
eggNOG; ENOG410INF8; Eukaryota.
eggNOG; COG1226; LUCA.
GeneTree; ENSGT00830000128242; -.
HOVERGEN; HBG053100; -.
InParanoid; Q99250; -.
KO; K04834; -.
OMA; ILPMNGK; -.
OrthoDB; EOG091G00FK; -.
PhylomeDB; Q99250; -.
TreeFam; TF323985; -.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
SIGNOR; Q99250; -.
ChiTaRS; SCN2A; human.
EvolutionaryTrace; Q99250; -.
GeneWiki; Nav1.2; -.
GenomeRNAi; 6326; -.
PRO; PR:Q99250; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000136531; -.
CleanEx; HS_SCN2A; -.
ExpressionAtlas; Q99250; baseline and differential.
Genevisible; Q99250; HS.
GO; GO:0030424; C:axon; TAS:BHF-UCL.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0031226; C:intrinsic component of plasma membrane; ISS:UniProtKB.
GO; GO:0033268; C:node of Ranvier; ISS:BHF-UCL.
GO; GO:0033270; C:paranode region of axon; IEA:Ensembl.
GO; GO:0034706; C:sodium channel complex; ISS:UniProtKB.
GO; GO:0030315; C:T-tubule; IEA:Ensembl.
GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:InterPro.
GO; GO:0005248; F:voltage-gated sodium channel activity; IMP:UniProtKB.
GO; GO:0008627; P:intrinsic apoptotic signaling pathway in response to osmotic stress; IEA:Ensembl.
GO; GO:0086010; P:membrane depolarization during action potential; IBA:GO_Central.
GO; GO:0042552; P:myelination; ISS:BHF-UCL.
GO; GO:0051402; P:neuron apoptotic process; IEA:Ensembl.
GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
GO; GO:0035725; P:sodium ion transmembrane transport; ISS:UniProtKB.
GO; GO:0006814; P:sodium ion transport; TAS:ProtInc.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR000048; IQ_motif_EF-hand-BS.
InterPro; IPR001696; Na_channel_asu.
InterPro; IPR010526; Na_trans_assoc.
InterPro; IPR024583; Na_trans_cytopl.
Pfam; PF00520; Ion_trans; 4.
Pfam; PF06512; Na_trans_assoc; 1.
Pfam; PF11933; Na_trans_cytopl; 1.
PRINTS; PR00170; NACHANNEL.
SMART; SM00015; IQ; 1.
PROSITE; PS50096; IQ; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disease mutation; Disulfide bond; Epilepsy; Glycoprotein; Ion channel;
Ion transport; Membrane; Phosphoprotein; Polymorphism;
Reference proteome; Repeat; Sodium; Sodium channel; Sodium transport;
Transmembrane; Transmembrane helix; Transport; Ubl conjugation;
Voltage-gated channel.
CHAIN 1 2005 Sodium channel protein type 2 subunit
alpha.
/FTId=PRO_0000048491.
TOPO_DOM 1 129 Cytoplasmic. {ECO:0000305}.
TRANSMEM 130 148 Helical; Name=S1 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 149 155 Extracellular. {ECO:0000305}.
TRANSMEM 156 176 Helical; Name=S2 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 177 190 Cytoplasmic. {ECO:0000305}.
TRANSMEM 191 208 Helical; Name=S3 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 209 214 Extracellular. {ECO:0000305}.
TRANSMEM 215 231 Helical; Name=S4 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 232 250 Cytoplasmic. {ECO:0000305}.
TRANSMEM 251 270 Helical; Name=S5 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 271 369 Extracellular. {ECO:0000305}.
INTRAMEM 370 394 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 395 401 Extracellular. {ECO:0000305}.
TRANSMEM 402 422 Helical; Name=S6 of repeat I.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 423 759 Cytoplasmic. {ECO:0000305}.
TRANSMEM 760 778 Helical; Name=S1 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 779 789 Extracellular. {ECO:0000305}.
TRANSMEM 790 809 Helical; Name=S2 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 810 823 Cytoplasmic. {ECO:0000305}.
TRANSMEM 824 843 Helical; Name=S3 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 844 845 Extracellular. {ECO:0000305}.
TRANSMEM 846 863 Helical; Name=S4 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 864 879 Cytoplasmic. {ECO:0000305}.
TRANSMEM 880 898 Helical; Name=S5 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 899 927 Extracellular. {ECO:0000305}.
INTRAMEM 928 948 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 949 961 Extracellular. {ECO:0000305}.
TRANSMEM 962 982 Helical; Name=S6 of repeat II.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 983 1209 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1210 1227 Helical; Name=S1 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1228 1240 Extracellular. {ECO:0000305}.
TRANSMEM 1241 1259 Helical; Name=S2 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1260 1273 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1274 1292 Helical; Name=S3 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1293 1300 Extracellular. {ECO:0000305}.
TRANSMEM 1301 1319 Helical; Name=S4 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1320 1336 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1337 1356 Helical; Name=S5 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1357 1408 Extracellular. {ECO:0000305}.
INTRAMEM 1409 1430 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1431 1447 Extracellular. {ECO:0000305}.
TRANSMEM 1448 1469 Helical; Name=S6 of repeat III.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1470 1532 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1533 1550 Helical; Name=S1 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1551 1561 Extracellular. {ECO:0000305}.
TRANSMEM 1562 1580 Helical; Name=S2 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1581 1592 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1593 1610 Helical; Name=S3 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1611 1623 Extracellular. {ECO:0000305}.
TRANSMEM 1624 1640 Helical; Name=S4 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1641 1659 Cytoplasmic. {ECO:0000305}.
TRANSMEM 1660 1677 Helical; Name=S5 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1678 1699 Extracellular. {ECO:0000305}.
INTRAMEM 1700 1722 Pore-forming.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1723 1752 Extracellular. {ECO:0000305}.
TRANSMEM 1753 1775 Helical; Name=S6 of repeat IV.
{ECO:0000250|UniProtKB:D0E0C2}.
TOPO_DOM 1776 2005 Cytoplasmic. {ECO:0000305}.
REPEAT 111 456 I. {ECO:0000305}.
REPEAT 741 1013 II. {ECO:0000305}.
REPEAT 1190 1504 III. {ECO:0000305}.
REPEAT 1513 1811 IV. {ECO:0000305}.
DOMAIN 1905 1934 IQ. {ECO:0000255|PROSITE-
ProRule:PRU00116}.
SITE 1489 1489 Important for channel closure.
{ECO:0000250}.
MOD_RES 4 4 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 468 468 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 471 471 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 484 484 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 526 526 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 528 528 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 531 531 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 553 553 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 554 554 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 558 558 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 573 573 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 576 576 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 589 589 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 610 610 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 623 623 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 686 686 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 687 687 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 721 721 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1506 1506 Phosphoserine; by PKC.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1930 1930 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1943 1943 Phosphothreonine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1963 1963 Phosphothreonine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1966 1966 Phosphothreonine.
{ECO:0000250|UniProtKB:P04775}.
MOD_RES 1971 1971 Phosphoserine.
{ECO:0000250|UniProtKB:P04775}.
CARBOHYD 212 212 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 285 285 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 291 291 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 297 297 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 303 303 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 308 308 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 340 340 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1368 1368 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1382 1382 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1393 1393 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 278 347 {ECO:0000250|UniProtKB:D0E0C2}.
DISULFID 910 910 Interchain; with SCN2B or SCN4B.
{ECO:0000250|UniProtKB:P04775}.
DISULFID 910 910 Interchain; with the conotoxin GVIIJ
(when the channel is not linked to SCN2B
or SCN4B; the bond to SCN2B or SCN4B
protects the channel from the inhibition
by toxin).
{ECO:0000250|UniProtKB:P04775}.
DISULFID 950 959 {ECO:0000250|UniProtKB:D0E0C2}.
VAR_SEQ 209 209 D -> N (in isoform 2). {ECO:0000305}.
/FTId=VSP_001032.
VARIANT 12 12 D -> N (probable disease-associated
mutation found in a patient with autism
spectrum disorder; decreased voltage-
gated sodium channel activity; faster
channel inactivation; loss of fucntion).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078448.
VARIANT 19 19 R -> K (in dbSNP:rs17183814).
{ECO:0000269|PubMed:11371648,
ECO:0000269|PubMed:12610651,
ECO:0000269|PubMed:19786696,
ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:26555645}.
/FTId=VAR_029732.
VARIANT 82 82 D -> G (probable disease-associated
mutation found in a patient with autism
spectrum disorder; decreased voltage-
gated sodium channel activity; decreased
expression; loss of function).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078449.
VARIANT 102 2005 Missing (probable disease-associated
mutation found in a patient with
intractable epilepsy and severe mental
decline; non-conducting; loss of voltage-
gated sodium channel activity; dominant-
negatif). {ECO:0000269|PubMed:15028761}.
/FTId=VAR_078450.
VARIANT 132 132 N -> K (in EIEE11).
{ECO:0000269|PubMed:24659627}.
/FTId=VAR_078451.
VARIANT 136 136 M -> I (in EIEE11).
{ECO:0000269|PubMed:23708187,
ECO:0000269|PubMed:26291284}.
/FTId=VAR_078452.
VARIANT 169 2005 Missing (found in a patient with
schizofrenia; unknown pathological
significance).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078453.
VARIANT 169 169 E -> G (in EIEE11).
{ECO:0000269|PubMed:23935176,
ECO:0000269|PubMed:27864847}.
/FTId=VAR_069996.
VARIANT 172 172 I -> V (found in a patient with non-
specific acute encephalopathy; unknown
pathological significance).
{ECO:0000269|PubMed:26311622}.
/FTId=VAR_075572.
VARIANT 188 188 R -> W (in BFIS3; mutant channel
inactivates more slowly than wild-type
whereas the Na(+) channel conductance is
not affected; dbSNP:rs121917748).
{ECO:0000269|PubMed:11371648}.
/FTId=VAR_029733.
VARIANT 191 191 W -> G (probable disease-associated
mutation found in a patient with drug-
resistant focal epilepsy).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078195.
VARIANT 208 208 V -> E (in BFIS3).
{ECO:0000269|PubMed:22612257}.
/FTId=VAR_072745.
VARIANT 211 211 G -> D (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23662938}.
/FTId=VAR_078730.
VARIANT 212 212 N -> D (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_069997.
VARIANT 213 213 V -> D (in EIEE11).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_069998.
VARIANT 218 218 T -> K (in EIEE11; unknown pathological
significance).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078454.
VARIANT 220 220 R -> G (in EIEE11).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078731.
VARIANT 223 223 R -> Q (in BFIS3; increased voltage-gated
sodium channel activity; modified voltage
dependence of activation and
inactivation; gain of function;
dbSNP:rs121917752).
{ECO:0000269|PubMed:15048894,
ECO:0000269|PubMed:17021166,
ECO:0000269|PubMed:23360469}.
/FTId=VAR_029734.
VARIANT 236 236 T -> S (in EIEE11).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_069999.
VARIANT 240 240 A -> S (in BFIS3).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078455.
VARIANT 251 251 V -> I (in EIEE11).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078196.
VARIANT 252 252 M -> V (in BFIS3; increased voltage-gated
sodium channel activity; increased
persistent sodium current; gain of
function; dbSNP:rs387906687).
{ECO:0000269|PubMed:20371507}.
/FTId=VAR_065176.
VARIANT 261 261 V -> M (in BFIS3; increased voltage-gated
sodium channel activity; faster recovery
from inactivation; gain of function).
{ECO:0000269|PubMed:20371507}.
/FTId=VAR_065177.
VARIANT 263 263 A -> T (in EIEE11).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070000.
VARIANT 263 263 A -> V (in EIEE11; also found in a
patient with neonatal epilepsy with late-
onset episodic ataxia; increased voltage-
gated sodium channel activity; increased
persistent sodium current; gain of
function; dbSNP:rs387906686).
{ECO:0000269|PubMed:20956790,
ECO:0000269|PubMed:23550958,
ECO:0000269|PubMed:26645390,
ECO:0000269|PubMed:27864847}.
/FTId=VAR_065178.
VARIANT 322 322 D -> N (found in a patient with Dravet
syndrome; unknown pathological
significance).
{ECO:0000269|PubMed:19783390,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073428.
VARIANT 328 328 F -> V (found in a patient with acute
encephalopathy with biphasic seizures,
late reduced diffusion and in a patient
with Dravet syndrome; unknown
pathological significance;
dbSNP:rs781204054).
{ECO:0000269|PubMed:16122630,
ECO:0000269|PubMed:19783390,
ECO:0000269|PubMed:19786696,
ECO:0000269|PubMed:23195492,
ECO:0000269|PubMed:26311622}.
/FTId=VAR_064331.
VARIANT 379 379 R -> H (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting;
no dominant-negatif effect).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078456.
VARIANT 385 385 F -> Y (in dbSNP:rs2228988).
/FTId=VAR_029735.
VARIANT 430 430 E -> G (in EIEE11; dbSNP:rs796053183).
{ECO:0000269|PubMed:24659627}.
/FTId=VAR_078457.
VARIANT 430 430 E -> Q (in BFIS3; unknown pathological
significance).
{ECO:0000269|PubMed:17386050}.
/FTId=VAR_078458.
VARIANT 524 524 R -> Q (in dbSNP:rs186154973).
{ECO:0000269|PubMed:11371648,
ECO:0000269|PubMed:19786696}.
/FTId=VAR_029736.
VARIANT 575 575 A -> V (polymorphism; there is no
significant effects on the voltage-
dependence of the channel).
{ECO:0000269|PubMed:19786696}.
/FTId=VAR_065179.
VARIANT 583 2005 Missing (probable disease-associated
mutation found in a patient with autism
spectrum disorder).
{ECO:0000269|PubMed:25969726}.
/FTId=VAR_078732.
VARIANT 649 649 D -> N (found in a patient with Dravet
syndrome; unknown pathological
significance).
{ECO:0000269|PubMed:23195492}.
/FTId=VAR_078733.
VARIANT 674 674 T -> K (probable disease-associated
mutation found in a patient with autism
spectrum disorder).
{ECO:0000269|PubMed:26637798}.
/FTId=VAR_078734.
VARIANT 850 850 R -> P (found in a patient with
schizofrenia; unknown pathological
significance).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078459.
VARIANT 853 853 R -> Q (in EIEE11; phenotype consistent
with West syndrome; dbSNP:rs794727152).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070001.
VARIANT 856 856 R -> L (in EIEE11).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078460.
VARIANT 873 873 I -> M (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078735.
VARIANT 876 876 N -> T (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070002.
VARIANT 892 892 V -> I (in BFIS3; dbSNP:rs121917751).
{ECO:0000269|PubMed:15048894}.
/FTId=VAR_029737.
VARIANT 896 896 A -> V (in EIEE11).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078197.
VARIANT 905 905 K -> N (in EIEE11; dbSNP:rs796053119).
{ECO:0000269|PubMed:23708187,
ECO:0000269|PubMed:26291284}.
/FTId=VAR_078461.
VARIANT 908 908 K -> R (found in a patient with
schizofrenia; unknown pathological
significance; dbSNP:rs2228980).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078462.
VARIANT 928 928 F -> C (in EIEE11; mild form with
ataxia). {ECO:0000269|PubMed:23708187,
ECO:0000269|PubMed:26291284}.
/FTId=VAR_078463.
VARIANT 937 937 R -> C (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting;
dbSNP:rs796053197).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078464.
VARIANT 937 937 R -> H (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078465.
VARIANT 959 2005 Missing (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078466.
VARIANT 976 976 N -> K (found in a patient with autism;
unknown pathological significance).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078467.
VARIANT 987 987 S -> I (in EIEE11; dbSNP:rs796053124).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078736.
VARIANT 999 999 E -> K (in EIEE11; the disease progresses
to West syndrome; dbSNP:rs796053126).
{ECO:0000269|PubMed:23935176,
ECO:0000269|PubMed:26993267}.
/FTId=VAR_070003.
VARIANT 999 999 E -> V (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078737.
VARIANT 1001 1001 N -> K (in BFIS3).
{ECO:0000269|PubMed:16417554,
ECO:0000269|PubMed:23360469}.
/FTId=VAR_078468.
VARIANT 1003 1003 L -> I (in BFIS3; dbSNP:rs121917754).
{ECO:0000269|PubMed:15048894}.
/FTId=VAR_029738.
VARIANT 1013 2005 Missing (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078469.
VARIANT 1128 1128 M -> T (found in a patient with acute
encephalitis with refractory and
repetitive partial seizures; unknown
pathological significance;
dbSNP:rs373780066).
{ECO:0000269|PubMed:22591750}.
/FTId=VAR_078470.
VARIANT 1211 1211 E -> K (in EIEE11; markedly altered
channel voltage-dependence;
dbSNP:rs387906684).
{ECO:0000269|PubMed:19786696}.
/FTId=VAR_065180.
VARIANT 1260 1260 K -> E (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078738.
VARIANT 1260 1260 K -> Q (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078739.
VARIANT 1282 1282 V -> F (found in a patient with
schizofrenia; unknown pathological
significance).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078471.
VARIANT 1312 1312 R -> T (in EIEE11; modified voltage-gated
sodium channel activity; activated with
lowered voltage sensitivity; disturbed
fast and slow inactivation).
{ECO:0000269|PubMed:19783390,
ECO:0000269|PubMed:22677033,
ECO:0000269|PubMed:23195492}.
/FTId=VAR_073429.
VARIANT 1316 1316 A -> V (in EIEE11; dbSNP:rs796053130).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078198.
VARIANT 1319 1319 R -> Q (in BFIS3; modified voltage-gated
sodium channel activity; modified voltage
dependence of activation and
inactivation; dbSNP:rs121917753).
{ECO:0000269|PubMed:15048894,
ECO:0000269|PubMed:17021166,
ECO:0000269|PubMed:18479388,
ECO:0000269|PubMed:23360469}.
/FTId=VAR_029739.
VARIANT 1321 1321 E -> K (in BFIS3; unknown pathological
significance).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078740.
VARIANT 1323 1323 M -> V (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070004.
VARIANT 1326 1326 V -> D (in EIEE11; dbSNP:rs796053131).
{ECO:0000269|PubMed:23988467}.
/FTId=VAR_078472.
VARIANT 1326 1326 V -> L (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070005.
VARIANT 1330 1330 L -> F (in BFIS3; increased voltage-gated
sodium channel activity; decreased
overall channel availability during
repetitive stimulation; gain of function;
no effect on kinetics of activation or
inactivation; no effect on voltage
dependence of activation;
dbSNP:rs121917749).
{ECO:0000269|PubMed:12243921,
ECO:0000269|PubMed:17021166,
ECO:0000269|PubMed:18479388}.
/FTId=VAR_029740.
VARIANT 1336 1336 S -> Y (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070006.
VARIANT 1338 1338 M -> T (in EIEE11).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070007.
VARIANT 1342 1342 L -> P (in EIEE11; dbSNP:rs796053134).
{ECO:0000269|PubMed:24659627,
ECO:0000269|PubMed:24710820,
ECO:0000269|PubMed:26138355}.
/FTId=VAR_078473.
VARIANT 1344 1344 C -> Y (in EIEE11).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078199.
VARIANT 1372 1372 G -> R (found in a patient with autism
spectrum disorder; unknown pathological
significance).
{ECO:0000269|PubMed:25969726}.
/FTId=VAR_078741.
VARIANT 1386 1386 C -> R (probable disease-associated
mutation found in a patient with autism
spectrum disorder; loss of voltage-gated
sodium channel activity; non-conducting).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078474.
VARIANT 1398 2005 Missing (in EIEE11).
{ECO:0000269|PubMed:23033978}.
/FTId=VAR_078742.
VARIANT 1420 1420 T -> M (probable disease-associated
mutation found in a patient with autism
spectrum disorder; decreased voltage-
gated sodium channel activity; faster
channel inactivation; fewer channels
contribution to macroscopic currents and
fewer channels expressed on membrane).
{ECO:0000269|PubMed:28256214}.
/FTId=VAR_078475.
VARIANT 1422 1422 K -> E (probable disease-associated
mutation found in a boy with infantile
spasms and bitemporal glucose
hypometabolism; dbSNP:rs796053137).
{ECO:0000269|PubMed:23827426}.
/FTId=VAR_070008.
VARIANT 1435 2005 Missing (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078743.
VARIANT 1473 1473 I -> M (in EIEE11; increased voltage-
gated sodium channel activity; markedly
altered the voltage-dependence of the
channel; gain of function;
dbSNP:rs387906685).
{ECO:0000269|PubMed:19786696}.
/FTId=VAR_065181.
VARIANT 1479 1479 Q -> P (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078744.
VARIANT 1515 2005 Missing (probable disease-associated
mutation found in a patient with autism
spectrum disorder).
{ECO:0000269|PubMed:26637798}.
/FTId=VAR_078745.
VARIANT 1522 1522 G -> A (in found in a patient with
neonatal epilepsy with late-onset
episodic ataxia and EIEE11; unknown
pathological significance; no effect
voltage-gated sodium channel activity;
higher current density when associated
with G-1882; unknown pathological
significance; dbSNP:rs147522594).
{ECO:0000269|PubMed:25818041,
ECO:0000269|PubMed:26645390}.
/FTId=VAR_078476.
VARIANT 1531 1531 Q -> K (in BFIS3; unknown pathological
significance).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078746.
VARIANT 1548 1548 M -> T (in EIEE11).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078200.
VARIANT 1559 1559 M -> V (found in a patient with
schizofrenia; unknown pathological
significance).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078477.
VARIANT 1563 1563 L -> V (in BFIS3; increased voltage-gated
sodium channel activity; impaired fast
inactivation; gain of function; no effect
on kinetics of activation or
inactivation; no effect on voltage
dependence of activation;
dbSNP:rs121917750).
{ECO:0000269|PubMed:12243921,
ECO:0000269|PubMed:17021166,
ECO:0000269|PubMed:18479388}.
/FTId=VAR_029741.
VARIANT 1589 1589 Y -> C (in BFIS3; increased voltage-gated
sodium channel activity; depolarized
shift of steady-state inactivation;
increased persistent sodium current;
slower fast inactivation; accelerated
recovery of fast inactivation; gain of
function). {ECO:0000269|PubMed:23758435}.
/FTId=VAR_078478.
VARIANT 1593 1593 G -> R (in EIEE11).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078479.
VARIANT 1596 1596 I -> S (in BFIS3; unknown pathological
significance).
{ECO:0000269|PubMed:17386050}.
/FTId=VAR_078480.
VARIANT 1623 1623 T -> N (in EIEE11; the disease progresses
to West syndrome).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070009.
VARIANT 1629 1629 R -> L (in EIEE11).
{ECO:0000269|PubMed:23935176}.
/FTId=VAR_070010.
VARIANT 1634 1634 G -> V (in EIEE11).
{ECO:0000269|PubMed:26291284}.
/FTId=VAR_078482.
VARIANT 1641 1641 K -> N (in BFIS3; unknown pathological
significance; dbSNP:rs767224097).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078747.
VARIANT 1650 1650 L -> P (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078748.
VARIANT 1660 1660 L -> W (in EIEE11).
{ECO:0000269|PubMed:25457084}.
/FTId=VAR_078483.
VARIANT 1744 1744 G -> R (probable disease-associated
mutation found in a patient with autism
spectrum disorder).
{ECO:0000269|PubMed:26637798}.
/FTId=VAR_078749.
VARIANT 1823 1823 D -> A (found in a patient with
schizofrenia; unknown pathological
significance; dbSNP:rs138497939).
{ECO:0000269|PubMed:26555645}.
/FTId=VAR_078484.
VARIANT 1829 1829 L -> F (in EIEE11).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078750.
VARIANT 1853 1853 H -> R (in EIEE11).
{ECO:0000269|PubMed:24463883}.
/FTId=VAR_078751.
VARIANT 1882 1882 R -> G (probable disease-associated
mutation found in a patient with neonatal
epilepsy and late-onset episodic ataxia;
gain of function mutation resulting in
increased voltage-gated sodium channel
activity; hyperpolarized activation;
higher current density when associated
with A-1522 compared to wild-type or G-
1882 alone; dbSNP:rs796053166).
{ECO:0000269|PubMed:26645390}.
/FTId=VAR_078485.
VARIANT 1882 1882 R -> L (in EIEE11; dbSNP:rs794727444).
{ECO:0000269|PubMed:24579881}.
/FTId=VAR_078486.
VARIANT 1882 1882 R -> Q (in EIEE11; dbSNP:rs794727444).
{ECO:0000269|PubMed:23708187,
ECO:0000269|PubMed:26291284,
ECO:0000269|PubMed:26993267,
ECO:0000269|PubMed:27864847}.
/FTId=VAR_078201.
VARIANT 1902 1902 R -> T (found in autism; unknown
pathological significance).
{ECO:0000269|PubMed:12610651}.
/FTId=VAR_029742.
VARIANT 1918 1918 R -> H (in dbSNP:rs201718767).
{ECO:0000269|PubMed:11738931}.
/FTId=VAR_078487.
CONFLICT 524 524 R -> L (in Ref. 1; AAA18895).
{ECO:0000305}.
CONFLICT 1325 1325 V -> A (in Ref. 1; AAA18895).
{ECO:0000305}.
CONFLICT 1768 1768 V -> L (in Ref. 1; AAA18895).
{ECO:0000305}.
CONFLICT 1990 1990 K -> R (in Ref. 5; CAA46438).
{ECO:0000305}.
HELIX 1792 1805 {ECO:0000244|PDB:4JPZ}.
STRAND 1811 1814 {ECO:0000244|PDB:4JPZ}.
TURN 1815 1817 {ECO:0000244|PDB:4JPZ}.
HELIX 1818 1823 {ECO:0000244|PDB:4JPZ}.
TURN 1827 1829 {ECO:0000244|PDB:4JPZ}.
HELIX 1836 1839 {ECO:0000244|PDB:4JPZ}.
STRAND 1845 1847 {ECO:0000244|PDB:4JPZ}.
TURN 1848 1850 {ECO:0000244|PDB:4JPZ}.
STRAND 1851 1853 {ECO:0000244|PDB:4JPZ}.
HELIX 1854 1866 {ECO:0000244|PDB:4JPZ}.
HELIX 1870 1886 {ECO:0000244|PDB:4JPZ}.
HELIX 1900 1926 {ECO:0000244|PDB:4JPZ}.
SEQUENCE 2005 AA; 227975 MW; 8A421AE6C7ED9A37 CRC64;
MAQSVLVPPG PDSFRFFTRE SLAAIEQRIA EEKAKRPKQE RKDEDDENGP KPNSDLEAGK
SLPFIYGDIP PEMVSVPLED LDPYYINKKT FIVLNKGKAI SRFSATPALY ILTPFNPIRK
LAIKILVHSL FNMLIMCTIL TNCVFMTMSN PPDWTKNVEY TFTGIYTFES LIKILARGFC
LEDFTFLRDP WNWLDFTVIT FAYVTEFVDL GNVSALRTFR VLRALKTISV IPGLKTIVGA
LIQSVKKLSD VMILTVFCLS VFALIGLQLF MGNLRNKCLQ WPPDNSSFEI NITSFFNNSL
DGNGTTFNRT VSIFNWDEYI EDKSHFYFLE GQNDALLCGN SSDAGQCPEG YICVKAGRNP
NYGYTSFDTF SWAFLSLFRL MTQDFWENLY QLTLRAAGKT YMIFFVLVIF LGSFYLINLI
LAVVAMAYEE QNQATLEEAE QKEAEFQQML EQLKKQQEEA QAAAAAASAE SRDFSGAGGI
GVFSESSSVA SKLSSKSEKE LKNRRKKKKQ KEQSGEEEKN DRVRKSESED SIRRKGFRFS
LEGSRLTYEK RFSSPHQSLL SIRGSLFSPR RNSRASLFSF RGRAKDIGSE NDFADDEHST
FEDNDSRRDS LFVPHRHGER RHSNVSQASR ASRVLPILPM NGKMHSAVDC NGVVSLVGGP
STLTSAGQLL PEGTTTETEI RKRRSSSYHV SMDLLEDPTS RQRAMSIASI LTNTMEELEE
SRQKCPPCWY KFANMCLIWD CCKPWLKVKH LVNLVVMDPF VDLAITICIV LNTLFMAMEH
YPMTEQFSSV LSVGNLVFTG IFTAEMFLKI IAMDPYYYFQ EGWNIFDGFI VSLSLMELGL
ANVEGLSVLR SFRLLRVFKL AKSWPTLNML IKIIGNSVGA LGNLTLVLAI IVFIFAVVGM
QLFGKSYKEC VCKISNDCEL PRWHMHDFFH SFLIVFRVLC GEWIETMWDC MEVAGQTMCL
TVFMMVMVIG NLVVLNLFLA LLLSSFSSDN LAATDDDNEM NNLQIAVGRM QKGIDFVKRK
IREFIQKAFV RKQKALDEIK PLEDLNNKKD SCISNHTTIE IGKDLNYLKD GNGTTSGIGS
SVEKYVVDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE EFSSESDMEE SKEKLNATSS
SEGSTVDIGA PAEGEQPEVE PEESLEPEAC FTEDCVRKFK CCQISIEEGK GKLWWNLRKT
CYKIVEHNWF ETFIVFMILL SSGALAFEDI YIEQRKTIKT MLEYADKVFT YIFILEMLLK
WVAYGFQVYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA LRPLRALSRF
EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINYT TGEMFDVSVV
NNYSECKALI ESNQTARWKN VKVNFDNVGL GYLSLLQVAT FKGWMDIMYA AVDSRNVELQ
PKYEDNLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM TEEQKKYYNA
MKKLGSKKPQ KPIPRPANKF QGMVFDFVTK QVFDISIMIL ICLNMVTMMV ETDDQSQEMT
NILYWINLVF IVLFTGECVL KLISLRYYYF TIGWNIFDFV VVILSIVGMF LAELIEKYFV
SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV MFIYAIFGMS
NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSGPPD CDPDKDHPGS
SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL SEDDFEMFYE
VWEKFDPDAT QFIEFAKLSD FADALDPPLL IAKPNKVQLI AMDLPMVSGD RIHCLDILFA
FTKRVLGESG EMDALRIQME ERFMASNPSK VSYEPITTTL KRKQEEVSAI IIQRAYRRYL
LKQKVKKVSS IYKKDKGKEC DGTPIKEDTL IDKLNENSTP EKTDMTPSTT SPPSYDSVTK
PEKEKFEKDK SEKEDKGKDI RESKK


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